Skip Segment Hirschsprung's Disease: Report of A Rare Case and Literature Review

Information from the abstract

We present an unusual case of skip segment Hirschsprung’s disease which was initially diagnosed with total colonic aganglionosis. A term male newborn presented with distal intestinal obstruction underwent exploratory laparotomy at three days old after ultrasound-guided contrast enema. Intra-operative frozen section of the full-thickness biopsies of each part of the colon and terminal ileum reported no ganglion cells, so we performed double-end ileostomy. Although all the final pathology reports confirmed no ganglion cells similar to the frozen sections, we were curious about the problematic bowel because of preoperative imaging (at the age of 30 months) which showed dilated transverse colon. Therefore, we decided to repeat a contrast enema and the study show a transition zone at the splenic flexure. Intra-operative frozen section of normal caliber ascending colon was confirmed for positive ganglions in both layers, then a pull-through operation with protective ileostomy was performed. The final pathology report showed no ganglion cells at rectum, descending, and transverse colon whereas normal ganglion cells were observed in sigmoid area. Up until the present, there are around thirty cases of skip segment Hirschsprung’s disease reported in the literature, so this phenomenon is rare but important. All the patients who do not present with a typical picture of Hirschsprung’s disease should be evaluated carefully since this spectrum of the disease can alter the length of resected bowel.

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Related topics: Congenital gastrointestinal and neural anomalies · Intestinal Malrotation and Obstruction Disorders · Congenital Anomalies and Fetal Surgery